HEMOCHROMATOSIS IN THE ERA OF GENETICS

A simple test is now available for detecting a mutation present in the homozygous state in 90% of hemochromatosis patients. This test obviat es the need for performing a liver biopsy for diagnostic purposes. Liv er biopsy can provide prognostic information, however, in patients wit h massive hepatic iron overload. Detection of the mutation allows to r ule out three differential diagnoses, of which two are common diseases . In familial studies, the genetic test has superseded HLA phenotype d etermination.